Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000179.3

p.A1320insFs

c.3959_3960ins5

Surrounding Variants

1 paper

NM_000179.3

p.A1320E

c.3959C>A

1 paper

NM_000179.3

p.A1320_R1321insFs

c.3960_3963dup4

1 paper

NM_000179.3

p.R1321_E1322insFs

c.3962_3965dup4

15 papers

NM_000179.3

p.A1320fs

c.3958_3959fs

1 paper

NM_000179.3

p.A1320insFs

c.3958_3959ins26

2 papers

NM_000179.3

p.A1320insFs

c.3958_3959ins19

34 papers

NM_000179.3

p.A1320fs

c.3958_3959fs

1 paper

NM_000179.3

p.R1321fs

c.3961_3962fs

1 paper

NM_000179.3

p.K1319_A1320insFs

c.3957_3958insTC

18 papers

NM_000179.3

p.R1321G

c.3961A>G

1 paper

NM_000179.3

p.R1321*

c.3961A>T

1 paper

NM_000179.3

p.R1321K

c.3962G>A